Literature DB >> 8014984

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

G Gillessen-Kaesbach, B Horsthemke.   

Abstract

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Year:  1994        PMID： 8014984      PMCID： PMC1049764          DOI： 10.1136/jmg.31.3.260-b

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  3 in total

1.  Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

Authors:  B B de Vries; J P Fryns; M G Butler; F Canziani; E Wesby-van Swaay; J O van Hemel; B A Oostra; D J Halley; M F Niermeijer
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

2.  Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

Authors:  B Dittrich; W P Robinson; H Knoblauch; K Buiting; K Schmidt; G Gillessen-Kaesbach; B Horsthemke
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

3.  Prader-Willi syndrome: consensus diagnostic criteria.

Authors:  V A Holm; S B Cassidy; M G Butler; J M Hanchett; L R Greenswag; B Y Whitman; F Greenberg
Journal:  Pediatrics       Date:  1993-02       Impact factor: 7.124
  3 in total
  4 in total

1.  Parental origin impairment of synaptic functions and behaviors in cytoplasmic FMRP interacting protein 1 (Cyfip1) deficient mice.

Authors:  Leeyup Chung; Xiaoming Wang; Li Zhu; Aaron J Towers; Xinyu Cao; Il Hwan Kim; Yong-hui Jiang
Journal:  Brain Res       Date:  2015-10-17       Impact factor: 3.252

2.  The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis.

Authors:  B B De Vries; M F Niermeijer
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

3.  Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.

Authors:  Yong-Hui Jiang; Kekio Wauki; Qian Liu; Jan Bressler; Yanzhen Pan; Catherine D Kashork; Lisa G Shaffer; Arthur L Beaudet
Journal:  BMC Genomics       Date:  2008-01-28       Impact factor: 3.969

4.  First Case Report of Prader-Willi-Like Syndrome in Colombia.

Authors:  Estephania Candelo; Max M Feinstein; Diana Ramirez-Montaño; Juan F Gomez; Harry Pachajoa
Journal:  Front Genet       Date:  2018-03-21       Impact factor: 4.599
  4 in total

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